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  3. CSTB
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Childhood onset dystonia, chorea or related movement disorder

Gene: CSTB

Green List (high evidence)
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Copied from Arianna Tucci (Genomics England) review on 100K Early dystonia panel (27 Mar 2017):

Biallelic mutations can cause an early onset neurodegenerative disorder characterized by myoclonus, epilepsy, ataxia which could be in differential with some dystonia genes. Also severe dyskinesia has been described (26843564). 90% of the pathogenic alleles consist of a 12bp repeat expansion, but missense mutations have also been described, normally would be compound heterozygous with the repeat expansion
Created: 9 Nov 2021, 3:09 p.m. | Last Modified: 9 Nov 2021, 3:09 p.m.
Panel Version: 1.182

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800

Publications

Created: 9 Nov 2021, 3:09 p.m.
Last Modified: 9 Nov 2021, 3:09 p.m.
Panel version: 1.182

Sarah Leigh (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
GMS review is requested in regard to Zornitza Stark's review; that the phenotype associated with CSTB - Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800, is not relevant to this panel.
Created: 19 May 2021, 10:42 a.m. | Last Modified: 19 May 2021, 10:42 a.m.
Panel Version: 1.114
Created: 19 May 2021, 10:42 a.m.
Last Modified: 19 May 2021, 10:42 a.m.
Panel version: 1.217

Zornitza Stark (Australian Genomics)

I don't know

Progressive myoclonic epilepsy rather than dystonia/chorea.
Created: 5 Sep 2020, 4:51 a.m. | Last Modified: 5 Sep 2020, 4:51 a.m.
Panel Version: 1.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800

Created: 5 Sep 2020, 4:51 a.m.
Last Modified: 5 Sep 2020, 4:51 a.m.
Panel version: 1.49

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: CSTB. Tag Q2_21_expert_review was removed from gene: CSTB.

9 Nov 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CSTB.

19 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: CSTB.

13 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: CSTB.

13 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CSTB. Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB Publications for gene CSTB were changed from to 26843564

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CSTB was added gene: CSTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: CSTB was set to